A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv970570



Internal ID18605792
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:108563988..108564832hg38UCSC Ensembl
Innerchr7:108204432..108205276hg19UCSC Ensembl
Innerchr7:107991668..107992512hg18UCSC Ensembl
Cytoband7q31.1
Allele length
AssemblyAllele length
hg38845
hg19845
hg18845
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2474312, nssv2474315, nssv2474313, nssv2474317, nssv2474311, nssv2474319, nssv2474314, nssv2474318, nssv2474316, nssv2474320
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known GenesTHAP5
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv970570
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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